Special Issue "Public Health Genetics and Genomics"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 February 2022.

Special Issue Editors

Prof. Dr. Stefania Boccia
E-Mail Website
Guest Editor
1. Department of Woman and Child Health and Public Health—Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
2. Section of Hygiene, University Department of Life Sciences and Public Health—Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: epidemiology of cancer; genetic epidemiology of cancer; epidemiological methods; public health; public health genomics
Dr. Iñaki Gutiérrez-Ibarluzea
E-Mail Website
Guest Editor
Basque Foundation for Health Innovation and Research-BIOEF, Ronda de Azkue 1, E-48902 Barakaldo, Spain
Interests: public health; genomics; genetics; proteomics; metabolomics; health technology assessment; epidemiology; systematic reviews; clinical practice guidelines

Special Issue Information

Dear Colleagues,

The field of Public Health Genomics (PHG) integrates genome-based knowledge and technologies into public policy and health services provision. Health services are expecting that human genetics will develop from a specialist health care field pertaining mainly to those small groups of patients with a risk of developing an inherited (and mainly monogenetic) disease into a significant area of mainstream medicine.

Combinations of biomarkers, predictive testing for susceptibilities, algorithms or big data and artificial intelligence analysis to develop “non-inherited” common diseases or conditions (e.g., diabetes mellitus and cancer) are regarded as falling within the field of Public Health Genomics.

The debate on “Public Health Genomics” (including frameworks and concepts such as genetic population screening through whole-genome sequencing or next-generation sequencing, metabolomics, pharmacogenetics, nutrigenetics, personalized medicine) is a hot topic in many countries around the world. The expansion of the reach of human genetics is promoted by some human geneticists and public health authority representatives, as well as scientific societies and alliances (e.g., the Public Health Genomics Foundation; the European Public Health Association; the HTAi IG on Public Health or the European Alliance of Personalised Medicine).

Genome-based knowledge needs to be properly communicated to health care professionals, the general public, and other stakeholders involved in the various tasks of public health. Different stakeholders’ literacy should be recognized in order to develop informed training or education initiatives based on their needs. Considering the increased availability of genomics technologies, the assessment of their value for the health system requires the enhancement of the HTA literacy and capability of health care professionals.

Public Health Genomics (PHG) may imply major but contested improvements for patients, large effects on the structure and financing of the public health system, and major ethical and privacy issues.

We are calling for the submission of manuscripts that report experiences, analysis, frameworks, stakeholder literacy, and HTA reports on technologies applied to PHG, including systematic reviews, observational studies, and results on national registries in the field of Public Health Genomics. Manuscripts will be peer reviewed by a set of outstanding specialists in this field of knowledge. 

Prof. Dr. Stefania Boccia
Dr. Iñaki Gutiérrez-Ibarluzea
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (1 paper)

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Opinion
Trefoil Factor Family Member 2 Expression as an Indicator of the Severity of the High-Fat Diet-Induced Obesity
Genes 2021, 12(10), 1505; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101505 - 26 Sep 2021
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Abstract
Trefoil Factor Family Member 2 (TFF2) belongs to TFF family peptides that includes TFF1, TFF2, TFF3. TFF2 is mainly known for its roles in the mucosal protection. In the context of obesity and high fat diet (HFD), Tff2 has been characterized as a [...] Read more.
Trefoil Factor Family Member 2 (TFF2) belongs to TFF family peptides that includes TFF1, TFF2, TFF3. TFF2 is mainly known for its roles in the mucosal protection. In the context of obesity and high fat diet (HFD), Tff2 has been characterized as a HFD-induced gene. The knock-out of Tff2 in mice lead to the protection from HFD-induced obesity with a metabolic profile towards a negative energy balance. Such HFD-specific expression gives Tff2 a pattern worth exploring in biomedical research. Indeed, measuring TFF2/TFF2/Tff2 expression in biological samples following the ingestion of high-fat diet reflects the biological “responsiveness” to the lipids ingestion and would reflect the severity of obesity establishment afterwards. Such property could be explored for instance to screen animal models, evaluate the predisposition to HFD-induced obesity as well as in biomedical and clinical applications. Results might advance obesity research especially in terms of understanding lipid-induced signals, appetite control and adiposity storage. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

1. Abstract: In this work the authors show the results of an analysis they conducted on the national Italian Health System (Servizio Sanitario Nazionale, SSN) to understand how much Next Generation Sequencing (NGS) techniques are integrated in the diagnostic routine proposed by physicians affiliated with the SSN. The aim of the work is to include Whole Exome Sequencing (WES) in the genetic diagnostic routine of patients with rare undiagnosed diseases. The authors randomly selected structures located in 10/20 Italian regions from Northern, Central and Southern Italy. The analysis was conducted interviewing both clinical centers (physicians) and geneticists whose laboratories offer NGS services.
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